Diabetes mellitus AND insipidus with optic atrophy AND deafness

Common Name(s)

Diabetes mellitus AND insipidus with optic atrophy AND deafness

Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by {35:Rendtorff et al., 2011}). Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness ({600965}) as well as a Wolfram syndrome-like phenotype ({614296}) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram Syndrome Wolfram syndrome-2 (WFS2; {604928}) is caused by mutation in the CISD2 gene ({611507}) on chromosome 4q22-q24. See {598500} for a possible mitochondrial form of Wolfram syndrome.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diabetes mellitus AND insipidus with optic atrophy AND deafness" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

GLP Analogs for Diabetes in Wolfram Syndrome Patients
 

Status: Not yet recruiting

Condition Summary: Diabetes Mellitus Associated With Genetic Syndrome; Wolfram Syndrome

 

Last Updated: 23 Feb 2011

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